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FLASH GENE

Symbol

COL9A3

contributors: - updated : 30-04-2007

HGNC name	collagen, type IX, alpha 3
HGNC id	2219

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth tongue     highly Hearing/Equilibrium ear inner cochlea   highly Lymphoid/Immune tonsils       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective cartilage hyaline

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

cartilage

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	fibril associated collagen with interrupted triple helices (FACIT)
	family
	thrombospondin N terminal-like domain

mono polymer

heteromer , trimer

HOMOLOGY

Homologene

FAMILY	collagen superfamily
	fibril-associated collagens with interrupted helices (FACIT) family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	ocular vitreous extracellular matrix

basic FUNCTION

essential for the assembly of type IX collagen molecules and of extracellular matrix

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	skeletal development

PATHWAY

metabolism

signaling

a component

heterotrimerizing with COL9A1 and COL9A2

INTERACTION

DNA

RNA

small molecule

protein

COLI, COLII fibers

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EDM3

Susceptibility

to lumbar disk disease

Variant & Polymorphism other	ARg103->TRP risk factor for lumbar disk disease

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS